Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906818
rs387906818
6 0.801 0.179 18 22181516 missense variant C/T snp 0.710 1.000 1 2014 2014
dbSNP: rs587777710
rs587777710
6 0.801 0.214 18 22171856 stop gained G/T snp 0.710 1.000 1 2014 2014
dbSNP: rs1057518944
rs1057518944
9 0.801 0.250 5 36984990 frameshift variant GTC/G in-del 0.700 1 2015 2015
dbSNP: rs587777711
rs587777711
3 0.878 0.179 18 22172216 frameshift variant GG/G in-del 0.700 1 2014 2014
dbSNP: rs121908603
rs121908603
5 0.846 0.107 8 105802189 missense variant A/C,G snp 4.9E-04; 4.0E-06 3.5E-04 0.020 1.000 2 2007 2013
dbSNP: rs121908604
rs121908604
2 1.000 0.071 8 105802609 missense variant A/G snp 0.010 1.000 1 2007 2007
dbSNP: rs146423225
rs146423225
2 0.923 0.107 8 105802747 stop gained C/G,T snp 1.1E-02 6.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs180765750
rs180765750
1 1.000 0.071 8 11750175 missense variant G/A snp 0.010 1.000 1 2013 2013
dbSNP: rs367832931
rs367832931
2 1.000 0.071 15 74185032 missense variant A/G snp 0.010 1.000 1 2014 2014
dbSNP: rs397518483
rs397518483
5 0.878 0.107 3 25596428 missense variant C/A,T snp 0.010 1.000 1 2014 2014